Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome. We have performed DNA sequencing of the LQTS-associated genes in 169 unrelated patients referred for genetic testing with respect to Romano Ward syndrome and in 13 unrelated patients referred for genetic testing with respect to Jervell and Lange-Nielsen syndrome. A total of 37 different mutations in the 5 genes, of which 20 were novel, were identified. Among patients with the most stringent clinical criteria of Romano Ward syndrome, a mutation was identified in 71%. Twelve of the 13 unrelated patients referred for genetic testing with respect to Jervell and Lange-Nielsen syndrome were provided with a molecular genetic diagnosis. Cascade genetic screening of 505 relatives of index patients with molecularly defined LQTS identified 251 mutation carriers. The observed penetrance was 41%. Although caution must be exerted, the prevalence of heterozygotes for mutations in the LQTS-associated genes in Norway could be in the range 1/100-1/300, based on the prevalence of patients with Jervell and Lange-Nielsen syndrome.

Death after injury in rural Norway: high rate of mortality and prehospital death.

BACKGROUND: Finnmark is a rural and remote area in Norway with a sparse population and long distances. Trauma-related mortality has been consistently above the Norwegian national average for the last 20 years. Although the causes of death are well established, very little is known about the time and place of death. This information has implications for the organization of emergency services in rural areas. We examined all trauma deaths over a five-year period in order to inform the debate on how best to reduce our above-average mortality rate. METHODS: A retrospective study of all deaths after trauma (ICD-9 E800-E999) during the years 1991-95 using data obtained from the National Registry of Death. RESULTS: Of the 183 cases found, 130 deaths were due to trauma using definitions comparable to similar studies. The mortality rate was 77 per 100,000 inhabitants per year. Death occurred in the prehospital phase in 85% of cases. Seventy-two per cent of all deaths (regardless of location) occurred within the first h after injury, eight per cent from 1 to 4 h and the remaining 20% occurred after 4 h. CONCLUSION: When planning interventions to reduce the mortality rate from trauma in rural areas, a high proportion of prehospital deaths should be expected. The high number of patients who are found dead (which can only be reduced by injury prevention) must be taken into account. Measures to reduce 'preventable' causes of death by bystanders should be evaluated. Further knowledge of exact mechanisms of death in the prehospital phase is required.

[Salivary gland drainage into the thyroglossal duct]. / Spyttkjerteldrenasje til ductus thyreoglossus.

BACKGROUND: Failure in regression of the thyroglossal duct is one of the most common reasons for midline swellings in the neck. Several authors have described recurrent thyroglossal duct remnants with persisting draining sinuses. However, few have described accessory salivary glands that drain into the thyroglossal duct. MATERIAL AND METHODS: In this article we report two such cases with midline salivary glands in the floor of the mouth. RESULTS: These two patients were subsequently successfully treated with radical tissue resection in the area between the hyoid bone and foramen cecum. INTERPRETATION: Preoperative fistulography or sinography was useful to demonstrate the ductal ramification of the salivary glands, and use of methylene blue during surgery proved of significant value for the result.